Severe microcephalyGene: ERCC4
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Comment on list classification: Updated rating from Red to Green: 3 cases linking fanconi anaemia and ERCC4 and a further case linking ERCC4 to pre-natal microcephaly.
Created: 9 Feb 2017, 2:29 p.m.
PMID:23623389 (Kashiyanma et al., 2013) present a patient (CS1USAU) with Cockayne syndrome who was prenatally diagnosed with microcephaly; the patient was compound heterozygous for mutations in ERCC4. They present another patient (XPCS1CD) with compound heterozygous mutations in ERCC4 and clinical features of Fanconi anaemia.
Created: 9 Feb 2017, 2:28 p.m.
Bogliolo et al. (PMID:23623386) report 2 unrelated Fanconi anaemia patients (German and Spanish) with compound heterozygous ERCC4 mutations.
Created: 9 Feb 2017, 2:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Fanconi anemia, complementation group Q, 61527
Source NHS GMS was added to ERCC4.
2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.
This gene has been classified as Green List (High Evidence).
ERCC4 was created by rfoulger
ERCC4 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Literature,Other